Submissions for variant NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)

gnomAD frequency: 0.00247  dbSNP: rs368002375

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440758	SCV000527726	benign	not specified	2016-05-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000440758	SCV000705139	benign	not specified	2017-01-12	criteria provided, single submitter	clinical testing
Invitae	RCV001081689	SCV001003261	benign	Developmental and epileptic encephalopathy, 36	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000862718	SCV001142983	benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081689	SCV002524941	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001081689	SCV002807142	benign	Developmental and epileptic encephalopathy, 36	2021-08-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000862718	SCV001928387	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000862718	SCV001972038	likely benign	not provided		no assertion criteria provided	clinical testing